Acute intermittent porphyria
Porphobilinogen Deaminase Gene Mutations in Polish Patients with Non-Erythroid Acute Intermittent Porphyria
... Background. Acute intermittent porphyria (AIP) is an metabolic disorder characterized by a partial deficiency of the porphobilinogen deaminase, the enzyme of heme ...
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Acute Intermittent Porphyria: Expression of Mutant and Wild-Type Porphobilinogen Deaminase in COS-1 Cells
... Background: Acute intermittent porphyria (AIP) is an autosomal dominant disorder that results from the partial deficiency of porphobilinogen deaminase (PBGD) in the heme biosynthetic ...experience ...
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<p>Acute Intermittent Porphyria: Current Perspectives And Case Presentation</p>
... Acute intermittent porphyria (AIP) is a member of a rare family of diseases characterized by de fi ciencies in heme biosynthesis. It is caused by a mutation which leads to partial function of ...
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Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria
... of acute intermittent porphyria (AIP) have been identified by in vitro amplification of cDNA and cloning of the amplified products in a bacterial expression ...
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Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver
... Acute intermittent porphyria (AIP) is an autosomal-dominant hepatic disorder caused by the half-normal activity of hydrox- ymethylbilane (HMB) ...life-threatening acute neurovisceral attacks ...
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The measurement of the synthetic rate of bilirubin from hepatic hemes in patients with acute intermittent porphyria
... with acute intermittent porphyria, as the appreciable quantities of prophobilinogen in the urine of these patients greatly facilitate the measurement of porphobilinogen- 14 C specific ...
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Studies in Porphyria: VII INDUCTION OF UROPORPHYRINOGEN I SYNTHASE AND EXPRESSION OF THE GENE DEFECT OF ACUTE INTERMITTENT PORPHYRIA IN MITOGEN STIMULATED HUMAN LYMPHOCYTES
... A 50% reduction in the activity of uroporphyrinogen-I (URO) synthase in liver, erythrocytes, and cultured skin fibroblasts characterizes all patients with clinically active acute intermittent ...
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Many pitfalls in diagnosis of acute intermittent porphyria: a case report
... with acute intermittent porphyria usually pre- sent with acute attacks with neurovisceral manifesta- tions which are common to several medical, psychiatric and surgical ...a porphyria, ...
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An update of clinical management of acute intermittent porphyria
... Abstract: Acute intermittent porphyria (AIP) is due to a deficiency of the third enzyme, the hydroxymethylbilane synthase, in heme ...an acute attack include the paroxysmal nature and various ...
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High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor
... of porphyria has been described compared to that observed in a healthy population, suggesting that they might be susceptibility factors ...with acute clinical manifest- ation of ...
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Adrenal hormonal imbalance in acute intermittent porphyria patients: results of a case control study
... Methods: A case – control study was performed by collecting spot morning urine from 24 AIP patients and 24 healthy controls. Steroids in urine were quantified by liquid chromatography-tandem mass spectrometry. Parent ...
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Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate
... 1, four major PBG-deaminase mutant classes were readily identified: a CRIM-negative type 1 heterozygotes with half-normal PBG-deaminase activity, b CRIM-negative type 2 heterozygotes wit[r] ...
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Influence of Age and Gender on the Clinical Expression of Acute Intermittent Porphyria Based on Molecular Study of Porphobilinogen Deaminase Gene Among Swiss Patients
... Confirmation of an Increased Disease Expression in Women Based on clinical observations, it is evident that women are more frequently affected by overt AIP than men despite the autosomal dominant inheri- tance in AIP ...
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Identification and Expression of Mutations in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria (AIP)
... Results: Three new mutations, a missense, M212V; a single base insertion, g4715insT; and a deletion/inser- tion, g7902ACT-*G, as well as five previously reported mutations (GlIlR, R116W,[r] ...
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Characterization of the Porphobilinogen Deaminase Deficiency in Acute Intermittent Porphyria: IMMUNOLOGIC EVIDENCE FOR HETEROGENEITY OF THE GENETIC DEFECT
... When the amount of CRIM was determined by rocket immunoelectrophoresis, erythrocyte lysates from hetero: .;0 00; zygous members of 21 unrelated AIP families were RN:s iX> found to have G[r] ...
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Acute Intermittent Porphyria in a Child with a Note on the Glycine Loading Test
... cidence of upset following hospitalization but also as a result of a relatively high incidence of benefit.. These analyses suggest that findings.[r] ...
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Self efficacy and self management strategies in acute intermittent porphyria
... risk relatives. Nevertheless, according to the motives for genetic testing results (Fig. 3), 45% of the study partici- pants reported that symptoms was one of the reasons for testing. It is understandable that patients ...
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Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid specific enzyme
... 4.3.1.8). Diagnosis of AIP heterozygotes is essential to prevent acute, life-threatening neurologic attacks by avoiding various precipitating factors. Since biochemical diagnosis is problematic, the identification ...
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The Comparison of Acetic Acid and Strontium Chloride Procedures for Extraction of Hemin
... Acute intermittent porphyria presenting as a diffuse encephalopathy. Acute porphyria: treatment with heme. Recommendations for the diagnosis and treatment of the acute p[r] ...
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MENINGISM, PERICARDITIS/MYOCARDITIS ASSOCIATED WITH ACUTE VARIGATE PORPHYRIA
... Coproporphyria), the patient may present with abdominal pain, vomiting, constipation, tachycardia, hypertension, peripheral neuritis, fits and psychosis. 1 A case is reported of acute varigate porphyria ...
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